| UniProt Protein Function: | ADAMTS2: Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis. Defects in ADAMTS2 are the cause of Ehlers-Danlos syndrome type 7C (EDS7C). EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS7C is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. 2 isoforms of the human protein are produced by alternative splicing.Protein type: EC 3.4.24.14; Extracellular matrix; Motility/polarity/chemotaxis; Protease; Secreted; Secreted, signal peptideChromosomal Location of Human Ortholog: 5q35.3Cellular Component: extracellular regionMolecular Function: metalloendopeptidase activity; metallopeptidase activityDisease: Ehlers-danlos Syndrome, Type Vii, Autosomal Recessive |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] |
| UniProt Code: | O95450 |
| NCBI GenInfo Identifier: | 218511944 |
| NCBI Gene ID: | 9509 |
| NCBI Accession: | O95450.2 |
| UniProt Secondary Accession: | O95450 |
| UniProt Related Accession: | O95450 |
| Molecular Weight: | 135 kDa |
| NCBI Full Name: | A disintegrin and metalloproteinase with thrombospondin motifs 2 |
| NCBI Synonym Full Names: | ADAM metallopeptidase with thrombospondin type 1 motif 2 |
| NCBI Official Symbol: | ADAMTS2 |
| NCBI Official Synonym Symbols: | NPI; PNPI; PCINP; PCPNI; PCI-NP; PC I-NP; ADAM-TS2; ADAMTS-2; ADAMTS-3 |
| NCBI Protein Information: | A disintegrin and metalloproteinase with thrombospondin motifs 2 |
| UniProt Protein Name: | A disintegrin and metalloproteinase with thrombospondin motifs 2 |
| UniProt Synonym Protein Names: | Procollagen I N-proteinase; PC I-NP; Procollagen I/II amino propeptide-processing enzyme; Procollagen N-endopeptidase; pNPI |
| Protein Family: | A disintegrin and metalloproteinase with thrombospondin motifs |
| UniProt Gene Name: | ADAMTS2 |
| UniProt Entry Name: | |
